Dasanu Constantin A, Natale Frances O, DeSilva Hema N
Department of Hematology-Oncology, Saint Francis Hospital and Medical Center, Gothic Park, 43 Woodland Street, Suite G-80, Hartford, CT 06105, USA.
Conn Med. 2010 Nov-Dec;74(10):581-3.
We present herein a case of a young female with congenital combined coagulation factor VII (FVII) and factor II (FII) deficiencies. She was completely asymptomatic and found to have a prolonged prothrombin time during a routine preoperative evaluation. Low levels of plasma FVII and FII in the absence of an inhibitor confirmed the diagnosis in our patient. Congenital combined FVII and FIX deficiency as well as combined FVII and FX deficiency have been previously reported. The congenital combined deficiency of FVII and FII in our patient is exceptional and represents the first such instance in the English literature. Furthermore, we hypothesize that she had not shown any bleeding manifestations because of possible compensation for the missing factors II and VII by enhanced activity of some intrinsic coagulation pathway components or depression of fibrinolysis.
我们在此报告一例年轻女性先天性凝血因子 VII（FVII）和因子 II（FII）联合缺乏的病例。她完全没有症状，在术前常规评估中发现凝血酶原时间延长。血浆 FVII 和 FII 水平低且无抑制剂可确诊我们的患者。此前已有先天性 FVII 和 FIX 联合缺乏以及 FVII 和 FX 联合缺乏的报道。我们患者中先天性 FVII 和 FII 联合缺乏情况罕见，是英文文献中首例此类病例。此外，我们推测她未出现任何出血表现可能是由于某些内源性凝血途径成分活性增强或纤维蛋白溶解受抑制，从而对缺失的因子 II 和 VII 起到了可能的代偿作用。
